Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Exome sequencing identifies mutations in the gene <i>TTC7A</i> in French-Canadian cases with hereditary multiple intestinal atresia

19 Feb 2013

Abstract excerpt

BACKGROUND: Congenital multiple intestinal atresia (MIA) is a severe, fatal neonatal disorder, involving the occurrence of obstructions in the small and large intestines ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype. A genetic basis for MIA is likely. We had previously ascertained a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital gastrointestinal and neural anomalies
Share to Esophageal and GI Pathology
Share to Intestinal Malrotation and Obstruction Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23423984
DOI: 10.1136/jmedgenet-2012-101483

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing identifies mutations in the gene <i>TTC7A</i> in French-Canadian cases with hereditary multiple intestinal atresiaPMID 23423984Read ↗

Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.Semantic proximity Read ↗

A Novel Homozygous TTC7A Missense Mutation Results In Familial Multiple Intestinal Atresia And Combined ImmunodeficiencySemantic proximity Read ↗

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.Semantic proximity Read ↗

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined ImmunodeficiencySemantic proximity Read ↗

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.Semantic proximity Read ↗

Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype ComparisonSemantic proximity Read ↗

TTC7A: Steward of Intestinal HealthSemantic proximity Read ↗

Prenatal imaging and whole-exome sequencing identifies novel tetratricopeptide repeat domain 7A mutation in fetus with gastrointestinal atresia: a case report.Semantic proximity Read ↗

Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresiaSemantic proximity Read ↗

Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.Semantic proximity Read ↗

Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.Semantic proximity Read ↗

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.